PubRank

Carmen Espinós

Author PubWeight™ 15.27‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation. J Neurol Sci 2006 1.95
2 Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis 2006 1.34
3 Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway. Hum Mol Genet 2009 1.29
4 Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series. Neurology 2013 1.04
5 Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy. Brain 2008 0.95
6 Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease. J Peripher Nerv Syst 2010 0.88
7 The USH2A c.2299delG mutation: dating its common origin in a Southern European population. Eur J Hum Genet 2010 0.87
8 Molecular analyses in hemophilia B families: identification of six new mutations in the factor IX gene. Haematologica 2003 0.86
9 5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes. JIMD Rep 2012 0.83
10 Ancient origin of the CAG expansion causing Huntington disease in a Spanish population. Hum Mutat 2005 0.82
11 Sh3tc2 deficiency affects neuregulin-1/ErbB signaling. Glia 2013 0.81
12 Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency. J Inherit Metab Dis 2013 0.80
13 New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition. Eur J Pediatr 2014 0.80
14 Molecular diagnosis of coenzyme Q10 deficiency. Expert Rev Mol Diagn 2015 0.78
15 Congenital hypomyelinating neuropathy due to a novel MPZ mutation. J Peripher Nerv Syst 2011 0.77
16 Severe and moderate hemophilia A: identification of 38 new genetic alterations. Haematologica 2008 0.77
17 A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency. Pediatr Res 2008 0.75
18 Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3. Mol Vis 2012 0.75
19 Inherited neuromuscular diseases. Translation from pathomechanisms to therapies. Adv Exp Med Biol 2009 0.75
20 Gene symbol: SH3TC2. Disease: Charcot-Marie-Tooth type 4C. Hum Genet 2008 0.75
21 Audiological Findings in Charcot-Marie-Tooth Disease Type 4C. J Int Adv Otol 2017 0.75